CA3141362A1 - Method and device for determining chromosomal aneuploidy and constructing classification model - Google Patents
Method and device for determining chromosomal aneuploidy and constructing classification model Download PDFInfo
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- CA3141362A1 CA3141362A1 CA3141362A CA3141362A CA3141362A1 CA 3141362 A1 CA3141362 A1 CA 3141362A1 CA 3141362 A CA3141362 A CA 3141362A CA 3141362 A CA3141362 A CA 3141362A CA 3141362 A1 CA3141362 A1 CA 3141362A1
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Classifications
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- G16H10/00—ICT specially adapted for the handling or processing of patient-related medical or healthcare data
- G16H10/40—ICT specially adapted for the handling or processing of patient-related medical or healthcare data for data related to laboratory analysis, e.g. patient specimen analysis
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING OR COUNTING
- G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
- G06N20/00—Machine learning
- G06N20/10—Machine learning using kernel methods, e.g. support vector machines [SVM]
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- G—PHYSICS
- G06—COMPUTING; CALCULATING OR COUNTING
- G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
- G06N3/00—Computing arrangements based on biological models
- G06N3/02—Neural networks
- G06N3/04—Architecture, e.g. interconnection topology
- G06N3/042—Knowledge-based neural networks; Logical representations of neural networks
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING OR COUNTING
- G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
- G06N3/00—Computing arrangements based on biological models
- G06N3/02—Neural networks
- G06N3/08—Learning methods
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/10—Ploidy or copy number detection
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B35/00—ICT specially adapted for in silico combinatorial libraries of nucleic acids, proteins or peptides
- G16B35/20—Screening of libraries
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
- G16B40/20—Supervised data analysis
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
- G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
- G16H50/70—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for mining of medical data, e.g. analysing previous cases of other patients
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- Engineering & Computer Science (AREA)
- Health & Medical Sciences (AREA)
- Physics & Mathematics (AREA)
- Medical Informatics (AREA)
- Life Sciences & Earth Sciences (AREA)
- General Health & Medical Sciences (AREA)
- Theoretical Computer Science (AREA)
- Data Mining & Analysis (AREA)
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- Spectroscopy & Molecular Physics (AREA)
- Evolutionary Biology (AREA)
- Biotechnology (AREA)
- Bioinformatics & Computational Biology (AREA)
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- Software Systems (AREA)
- Chemical & Material Sciences (AREA)
- Molecular Biology (AREA)
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- Primary Health Care (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Artificial Intelligence (AREA)
- Evolutionary Computation (AREA)
- Analytical Chemistry (AREA)
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- Genetics & Genomics (AREA)
- Pathology (AREA)
- Bioethics (AREA)
- Computing Systems (AREA)
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- Mathematical Physics (AREA)
- Library & Information Science (AREA)
- Computational Linguistics (AREA)
- Biochemistry (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Analysing Materials By The Use Of Radiation (AREA)
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| PCT/CN2019/130625 WO2021134513A1 (zh) | 2019-12-31 | 2019-12-31 | 确定染色体非整倍性、构建分类模型的方法和装置 |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA3141362A1 true CA3141362A1 (en) | 2021-07-08 |
Family
ID=70827394
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA3141362A Pending CA3141362A1 (en) | 2019-12-31 | 2019-12-31 | Method and device for determining chromosomal aneuploidy and constructing classification model |
Country Status (9)
| Country | Link |
|---|---|
| US (1) | US20220336047A1 (de) |
| EP (1) | EP4086356A4 (de) |
| JP (1) | JP7467504B2 (de) |
| KR (1) | KR20220122596A (de) |
| CN (1) | CN111226281B (de) |
| AU (1) | AU2019480813B2 (de) |
| CA (1) | CA3141362A1 (de) |
| IL (1) | IL277746A (de) |
| WO (1) | WO2021134513A1 (de) |
Families Citing this family (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN112037846A (zh) * | 2020-07-14 | 2020-12-04 | 广州市达瑞生物技术股份有限公司 | 一种cffDNA非整倍体检测方法、系统、储存介质以及检测设备 |
| CN116648752A (zh) * | 2020-11-27 | 2023-08-25 | 深圳华大生命科学研究院 | 一种胎儿染色体异常的检测方法与系统 |
| CN116312813B (zh) * | 2023-05-22 | 2023-08-22 | 上海科技大学 | 鉴定干细胞群代次的方法及标志物 |
Family Cites Families (20)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN102753703B (zh) * | 2010-04-23 | 2014-12-24 | 深圳华大基因健康科技有限公司 | 胎儿染色体非整倍性的检测方法 |
| US20140228226A1 (en) * | 2011-09-21 | 2014-08-14 | Bgi Health Service Co., Ltd. | Method and system for determining chromosome aneuploidy of single cell |
| DK2768978T3 (en) * | 2011-10-18 | 2017-12-18 | Multiplicom Nv | Fetal CHROMOSOMAL ANEUPLOIDID DIAGNOSIS |
| EP2834376B1 (de) * | 2012-04-06 | 2017-03-15 | The Chinese University Of Hong Kong | Nichtinvasive pränatale diagnose fötaler trisomie durch allelratioanalyse mithilfe gezielter massiv paralleler sequenzierung |
| WO2014153755A1 (zh) * | 2013-03-28 | 2014-10-02 | 深圳华大基因研究院 | 确定胎儿染色体非整倍性的方法、系统和计算机可读介质 |
| CN104520437B (zh) * | 2013-07-17 | 2016-09-14 | 深圳华大基因股份有限公司 | 一种染色体非整倍性检测方法及装置 |
| CN105765076B (zh) * | 2013-12-17 | 2019-07-19 | 深圳华大基因股份有限公司 | 一种染色体非整倍性检测方法及装置 |
| US20160026759A1 (en) * | 2014-07-22 | 2016-01-28 | Yourgene Bioscience | Detecting Chromosomal Aneuploidy |
| CN104232777B (zh) * | 2014-09-19 | 2016-08-24 | 天津华大基因科技有限公司 | 同时确定胎儿核酸含量和染色体非整倍性的方法及装置 |
| CN104789686B (zh) * | 2015-05-06 | 2018-09-07 | 浙江安诺优达生物科技有限公司 | 检测染色体非整倍性的试剂盒和装置 |
| CN104789466B (zh) * | 2015-05-06 | 2018-03-13 | 安诺优达基因科技(北京)有限公司 | 检测染色体非整倍性的试剂盒和装置 |
| US20180327844A1 (en) * | 2015-11-16 | 2018-11-15 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| WO2017093561A1 (en) * | 2015-12-04 | 2017-06-08 | Genesupport Sa | Method for non-invasive prenatal testing |
| CN105844116B (zh) * | 2016-03-18 | 2018-02-27 | 广州市锐博生物科技有限公司 | 测序数据的处理方法和处理装置 |
| CN106520940A (zh) * | 2016-11-04 | 2017-03-22 | 深圳华大基因研究院 | 一种染色体非整倍体和拷贝数变异检测方法及其应用 |
| BR112019014208A2 (pt) * | 2017-01-11 | 2020-03-17 | Quest Diagnostics Investments Llc | Métodos para detectar diagnóstico falso-positivo de aneuploidia cromossômica em um feto e para detectar diagnóstico aneuploidiadiagnóstico de aneuploidia cromossômica falso-positiva em um feto. |
| HUE055063T2 (hu) * | 2017-07-26 | 2021-10-28 | Trisomytest S R O | Eljárás magzati kromoszóma aneuploidia nem-invazív azonosítására születés elõtt anyai vérbõl Bayes-háló alapján |
| SK862017A3 (sk) * | 2017-08-24 | 2020-05-04 | Grendar Marian Doc Mgr Phd | Spôsob použitia fetálnej frakcie a chromozómovej reprezentácie pri určovaní aneuploidného stavu v neinvazívnom prenatálnom testovaní |
| CN108363903B (zh) * | 2018-01-23 | 2022-03-04 | 和卓生物科技（上海）有限公司 | 一种适用于单细胞的染色体非整倍性检测系统及应用 |
| CN108611408A (zh) * | 2018-02-23 | 2018-10-02 | 深圳市瀚海基因生物科技有限公司 | 检测胎儿染色体非整倍性的方法和装置 |
-
2019
- 2019-12-31 CN CN201980004859.0A patent/CN111226281B/zh active Active
- 2019-12-31 KR KR1020227003512A patent/KR20220122596A/ko unknown
- 2019-12-31 AU AU2019480813A patent/AU2019480813B2/en active Active
- 2019-12-31 JP JP2021569370A patent/JP7467504B2/ja active Active
- 2019-12-31 CA CA3141362A patent/CA3141362A1/en active Pending
- 2019-12-31 EP EP19958118.2A patent/EP4086356A4/de active Pending
- 2019-12-31 US US17/612,515 patent/US20220336047A1/en active Pending
- 2019-12-31 WO PCT/CN2019/130625 patent/WO2021134513A1/zh unknown
-
2020
- 2020-10-01 IL IL277746A patent/IL277746A/en unknown
Also Published As
| Publication number | Publication date |
|---|---|
| JP2023517155A (ja) | 2023-04-24 |
| AU2019480813A1 (en) | 2021-12-16 |
| AU2019480813A8 (en) | 2022-05-12 |
| EP4086356A4 (de) | 2023-09-27 |
| CN111226281B (zh) | 2023-03-21 |
| AU2019480813B2 (en) | 2024-07-18 |
| JP7467504B2 (ja) | 2024-04-15 |
| CN111226281A (zh) | 2020-06-02 |
| EP4086356A1 (de) | 2022-11-09 |
| WO2021134513A1 (zh) | 2021-07-08 |
| IL277746A (en) | 2021-12-01 |
| KR20220122596A (ko) | 2022-09-02 |
| US20220336047A1 (en) | 2022-10-20 |
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